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Gene: Fto MGI:1347093

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Gene Summary

Name:
FTO alpha-ketoglutarate dependent dioxygenase
Synonyms:
N/A

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased circulating cholesterol level Ftotm1a(EUCOMM)Wtsi HOM   Early adult 9.09×10-05
decreased circulating iron level Ftotm1a(EUCOMM)Wtsi HOM Early adult 4.21×10-05
decreased circulating alanine transaminase level Ftotm1a(EUCOMM)Wtsi HOM   Early adult 3.76×10-06

Download data as:  TSV  XLS

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 50% (1 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 50% (1 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote Ambiguous
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 50% (1 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Histopathology

Images

2 Images

View images
Legacy Phenotype Associated Images
Ftotm1a(EUCOMM)Wtsi
head, HOM, Male, WTSI
Ftotm1a(EUCOMM)Wtsi
body, HOM, Male, WTSI
Ftotm1a(EUCOMM)Wtsi
head, HOM, Male, WTSI
Ftotm1a(EUCOMM)Wtsi
forearm, HOM, Male, WTSI
Ftotm1a(EUCOMM)Wtsi
body, HOM, Female, WTSI

View all 43 images

Ftotm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Ftotm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Ftotm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Ftotm1a(EUCOMM)Wtsi
back skin, HOM, Female, WTSI
Ftotm1a(EUCOMM)Wtsi
eye, corneal opacity, synechia, abnormal iris morphology, HOM, Female, WTSI
Ftotm1a(EUCOMM)Wtsi
eye, corneal opacity, synechia, HOM, Female, WTSI

Human diseases caused by Fto mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Fto by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Intrauterine growth retardation, Failure to thrive, Umbilical hernia OMIM:612938

The table below shows human diseases predicted to be associated to Fto by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... ORPHA:71526
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholestero... OMIM:232700
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli... ORPHA:71529
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr... OMIM:619855
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Diabetes mellitus, Obesity OMIM:608320
Obesity
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure OMIM:601665
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre... OMIM:615703
Transient Neonatal Diabetes Mellitus
Small for gestational age, Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes ... ORPHA:99886
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... OMIM:240900
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... ORPHA:280356
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration ORPHA:206599
Iron Overload, Susceptibility To
Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... OMIM:620121
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Increased subc... OMIM:608600
Obesity Due To Sim1 Deficiency
Short stature, Hyperinsulinemia, Obesity, Attention deficit hyperactivity disorder, Increased res... ORPHA:369873
Hypothyroidism, Congenital, Nongoitrous, 8
Decreased circulating free T4 concentration, Hypercholesterolemia, Inappropriately normal thyroid... OMIM:301033
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... OMIM:620211
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Hypertriglyceridemia, Insu... OMIM:612526
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos... OMIM:610947
Lipase Deficiency, Combined
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus OMIM:246650
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Short stature, Aggressive behavior, Hyperinsulinemia, Obesity, Polyphagia ORPHA:329249
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... OMIM:604367
Leptin Deficiency Or Dysfunction
Hypogonadism, Polyphagia, Obesity, Decreased serum leptin OMIM:614962
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia ORPHA:366
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... OMIM:617885
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Short stature, Cachexia, Joint stiffness ORPHA:1144
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... ORPHA:171706
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Large ... ORPHA:324575
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotriglyceridemia, Hypoc... OMIM:246700
Mulibrey Nanism
Intrauterine growth retardation, Short stature, Cachexia ORPHA:2576
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hyperinsulinemia, Agitation, Type I diabetes mellitus, Hyperinsulinemi... ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Agitation, Type I diabetes mellit... ORPHA:276580
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia, Obesity OMIM:618406
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... OMIM:275000
Obesity And Hypopigmentation
Hyperinsulinemia, Polyphagia, Obesity OMIM:620195
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin resistance, Insulin-resistant diabetes ... OMIM:613877
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin... ORPHA:79085
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Decreased adip... ORPHA:435660
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia, Joint stiffness ORPHA:1216
Temple Syndrome
Short stature, Decreased response to growth hormone stimulation test, Small for gestational age, ... ORPHA:254516
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Diabeti... OMIM:615238
Multicentric Reticulohistiocytosis
Arthritis, Cachexia ORPHA:139436
Hypertriglyceridemia 1
Glucose intolerance, Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Huntington Disease
Aggressive behavior, Oral-pharyngeal dysphagia, Inability to walk, Weight loss, Bradykinesia, Add... ORPHA:399
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... ORPHA:254704
Mody
Abnormality of the kidney, Elevated hemoglobin A1c, Large for gestational age, Overweight, Transi... ORPHA:552
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Elevated transferrin saturation OMIM:205950
Galactokinase Deficiency
Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Hyperinsulinemia, Increa... ORPHA:79237
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Agitation, Hyperinsulinemic hypoglycemia, Excessive insulin response t... ORPHA:276556
Moynahan Syndrome
Hypogonadism, Short stature, Cachexia ORPHA:2574
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Decreased adip... ORPHA:435651
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Mahvash Disease
Increased glucagon level, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia OMIM:619290
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Failure to thrive in infancy OMIM:619175
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... ORPHA:79299
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... ORPHA:2457
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... OMIM:151660
Bardet-Biedl Syndrome 22
Hypogonadism, Polyphagia, Obesity, Large for gestational age OMIM:617119
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hypertriglyceridemia ORPHA:436182
Neutral Lipid Storage Disease With Myopathy
Diabetes mellitus, Elevated circulating creatine kinase concentration, Hypertriglyceridemia OMIM:610717
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Laryngeal Neuroendocrine Tumor
Anorexia, Oral-pharyngeal dysphagia, Weight loss, Adrenocorticotropic hormone excess, Increased s... ORPHA:100083
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... ORPHA:263458
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy... OMIM:609968
Schaaf-Yang Syndrome
Short stature, Failure to thrive in infancy, Impulsivity, Inability to walk, Flexion contracture,... OMIM:615547
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Prader-Willi Syndrome Due To Imprinting Mutation
Short stature, Polyphagia, Obesity, Hypogonadotropic hypogonadism ORPHA:177910
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Polydipsia, Polyphagia OMIM:222100
Gracile Syndrome
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron OMIM:603358
Hyperinsulinemic Hypoglycemia, Familial, 6
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy... OMIM:606762
Congenital Generalized Lipodystrophy
Diabetes mellitus, Precocious puberty in females, Lipodystrophy, Hypertriglyceridemia, Adipose ti... ORPHA:528
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Temple Syndrome
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Precocious... OMIM:616222
Immunodeficiency 51
Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre... OMIM:613953
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Lipodystrophy, Lipoatrophy, Cachexia, Joint stiffness, Flexi... ORPHA:1979
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia, Obesity OMIM:613886
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... OMIM:256450
Insulinoma
Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathyroidism,... ORPHA:97279
Diencephalic Syndrome
Abnormality of the hypothalamus-pituitary axis, Cachexia, Decreased body weight ORPHA:1672
14Q11.2 Microduplication Syndrome
Aggressive behavior, Polyphagia, Obesity, Attention deficit hyperactivity disorder, Hypothyroidism ORPHA:261229
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Acne, Increased bone mineral density, Cachex... ORPHA:77297
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Reduced intraabdominal adipose tissue,... ORPHA:363400
Congenital Muscular Dystrophy Due To Lmna Mutation
Joint hyperflexibility, Cachexia, Flexion contracture, Limitation of joint mobility ORPHA:157973
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Hyperactivity, Ataxia, Obesity, Inappropriate laughter, Polyphagia ORPHA:411515
Pulmonary Blastoma
Recurrent pneumonia, Weight loss ORPHA:64741
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia OMIM:615863
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... OMIM:600955
Hypotonia-Cystinuria Syndrome
Growth delay, Failure to thrive, Polyphagia ORPHA:163690
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypo... OMIM:601820
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Hypercholesterolemia, Obesity, Maturity-onset diabetes of the young ORPHA:254531
Christianson Syndrome
Cachexia, Joint hyperflexibility, Inappropriate laughter, Dysphagia, Arthrogryposis multiplex con... ORPHA:85278
Idiopathic Achalasia
Weight loss, Recurrent aspiration pneumonia, Dysphagia ORPHA:930
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615558
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia, Generalized aminoaciduria, Renal tubular dysfunction, Failure to ... OMIM:606528
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia, Hyperuricemia OMIM:306000
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... OMIM:615812
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma, Failure to thrive OMIM:227090
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ... ORPHA:293964
Fish-Eye Disease
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Mantle Cell Lymphoma
Anorexia, Weight loss ORPHA:52416
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... OMIM:616834
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity, Polyphagia, Self-mutilation, Aggressive behavior OMIM:616521
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... OMIM:619868
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Elevated circulating... ORPHA:913
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Polyphagia, Decreased body weight OMIM:620085
Aredyld Syndrome
Craniofacial hyperostosis, Short stature, Abnormal dental enamel morphology, Cachexia, Lipoatroph... ORPHA:1133
6Q16 Microdeletion Syndrome
Broad-based gait, Polyphagia, Obesity, Abnormal temper tantrums ORPHA:171829
Laron Syndrome
Hypoplasia of penis, Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Delayed ... ORPHA:633
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Fanconi-Bickel Syndrome
Hyperphosphaturia, Diabetes mellitus, Impaired glucose tolerance, Hypertriglyceridemia, Hypercalc... ORPHA:2088
Alexander Disease Type I
Failure to thrive, Cachexia, Dysphagia ORPHA:363717
Congenital Ichthyosiform Erythroderma
Short stature, Keratitis, Pruritus, Erythroderma, Failure to thrive ORPHA:79394
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... OMIM:616516
Spinocerebellar Ataxia 48
Cachexia, Dysphagia OMIM:618093
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy... ORPHA:2298
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Riboflavin Transporter Deficiency
Cachexia, Aggressive behavior, Hypogonadism, Dysphagia, Diabetes insipidus ORPHA:97229
Analbuminemia
Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr... OMIM:616000
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Postnatal ... OMIM:606407
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity... ORPHA:77296
2Q23.1 Microdeletion Syndrome
Hyperactivity, Short stature, Ataxia, Abnormal repetitive mannerisms, Growth delay, Self-injuriou... ORPHA:228402
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Lipodystrophy, Hypertriglyceride... OMIM:615381
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria OMIM:245900
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Hypertriglyceridemia, Transient Infantile
Failure to thrive, Hypertriglyceridemia OMIM:614480
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... OMIM:618620
Reni Syndrome
Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Hypoglycemia, Mesangial hypercell... OMIM:617575
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Flynn-Aird Syndrome
Cachexia, Joint stiffness, Abnormality of the thyroid gland, Bone cyst, Primary adrenal insuffici... ORPHA:2047
Hyperinsulinism-Hyperammonemia Syndrome
Increased urine alpha-ketoglutarate concentration, Reactive hypoglycemia, Fasting hyperinsulinemi... ORPHA:35878
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia, Flexion contracture OMIM:618856
Gcgr-Related Hyperglucagonemia
Diabetes mellitus, Increased glucagon level, Glucagonoma ORPHA:438274
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... ORPHA:300373
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi... OMIM:618858
Renal Glucosuria
Polydipsia, Polyphagia, Glycosuria OMIM:233100
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia OMIM:610539
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Osteopenia, Hip contracture, Failure to thrive in infancy, Cachexia, Intrauterine growth retardation OMIM:616801
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:98793
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia OMIM:618010
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:177904
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:98754
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... ORPHA:177901
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Hypertriglyceridemia, Adrenal calcification ORPHA:75234
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Insulin res... OMIM:615980
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Glomerulopathy, Diabetes mellitus, Lipodystrophy, L... ORPHA:2348
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss, Erythroderma ORPHA:312
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Cachexia, Limitation of joint mobility, Osteolysis, Metacarpal osteolysi... ORPHA:2774
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Pediatric-Onset Graves Disease
Hyperactivity, Puberty and gonadal disorders, Thyrotoxicosis with diffuse goiter, Increased circu... ORPHA:525731
Renpenning Syndrome
Diabetes mellitus, Severe short stature, Cachexia, Joint stiffness, Growth delay ORPHA:3242
Mandibuloacral Dysplasia With Type A Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Calcinosis, Li... OMIM:248370
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Pneumonia, Anorexia, Recurrent pneumonia, Hepatitis, Otitis media, Eryt... ORPHA:169160
Mcdonough Syndrome
Short stature, Cachexia ORPHA:2471
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Obesity, Tru... ORPHA:96184
Diabetes Mellitus, Permanent Neonatal, 1
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T... OMIM:606176
Familial Reactive Perforating Collagenosis
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Diabetes mellitu... ORPHA:79147
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short stature, Cachexia ORPHA:1389
Ichthyosis With Confetti
Pruritus, Decreased body weight, Short stature, Erythroderma OMIM:609165
Immunodeficiency 58
Recurrent cutaneous abscess formation, Short stature, Eczema, Allergic rhinitis, Seborrheic derma... OMIM:618131
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ... ORPHA:567548
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Chronic Hiccup
Weight loss, Abnormal eating behavior ORPHA:396
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Lipoatrophy, Hypertriglyceridemi... ORPHA:79083
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Ketonuria, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia, Failure ... ORPHA:2089
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron ORPHA:446
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma, Failure to thrive ORPHA:1954
Tuberculosis
Weight loss ORPHA:3389
Magel2-Related Prader-Willi-Like Syndrome
Premature pubarche, Short stature, Impulsivity, Precocious puberty, Flexion contracture, Increase... ORPHA:398069
Undifferentiated Pleomorphic Sarcoma
Anorexia, Weight loss ORPHA:2023
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... ORPHA:33543
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... OMIM:262190
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hip contracture, Short stature, Cachexia, Elbow flexion contracture, Knee flexion contracture, Se... ORPHA:371364
Solitary Fibrous Tumor
Hypoglycemia, Reduced C-peptide level, Weight loss, Recurrent hypoglycemia, Urinary retention, Hy... ORPHA:2126
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia OMIM:615924
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... ORPHA:453533
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Failure to thrive, Blepharitis, Erythroderma OMIM:614328
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Obesity, Absence of pubert... ORPHA:398079
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Frontotemporal Dementia
Polyphagia, Disinhibition, Inappropriate laughter OMIM:600274
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Proteinuria, Insulin-resistant diabetes mellitus, Insulin resistance, Hyper... ORPHA:79086
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... ORPHA:280365
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... ORPHA:276608
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Idiopathic Bronchiectasis
Acute infectious pneumonia, Bronchiectasis, Cachexia ORPHA:60033
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:607616
Smith-Magenis Syndrome
Hypertriglyceridemia, Abnormality of the thyroid gland, Abnormal renal morphology, Increased body... OMIM:182290
Immunodeficiency 85 And Autoimmunity
Failure to thrive in infancy, Eczema, Oligoarthritis, Growth delay, Erythroderma OMIM:619510
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Ketonuria, Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for ge... ORPHA:79644
Angelman Syndrome
Hyperactivity, Broad-based gait, Precocious puberty in females, Ataxia, Aggressive behavior, Inab... ORPHA:72
Bardet-Biedl Syndrome 9
Polydipsia, Obesity, Truncal obesity, Hyperglycemia, Polyphagia OMIM:615986
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Pustule, Myocarditis, Hepatitis, Thyroiditis, Weight loss, Tubulointerstitial nephriti... ORPHA:139402
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Weight loss ORPHA:141152
9Q31.1Q31.3 Microdeletion Syndrome
Overweight, Hypercholesterolemia, Type II diabetes mellitus, Renovascular hypertension ORPHA:401923
Hereditary Central Diabetes Insipidus
Growth delay, Polydipsia, Diabetes insipidus, Weight loss ORPHA:30925
X-Linked Creatine Transporter Deficiency
Hyperactivity, Short stature, Cachexia, Joint hyperflexibility, Self-mutilation ORPHA:52503
Neuropathy, Congenital Hypomyelinating, 3
Limb joint contracture, Cachexia, Flexion contracture, Neonatal death, Arthrogryposis multiplex c... OMIM:618186
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Dysbetalipoproteinemia
Decreased HDL cholesterol concentration, Diabetes mellitus, Hypertriglyceridemia, Renal steatosis... ORPHA:412
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma, Type I diabetes mellitus, Failure... OMIM:304790
Familial Renal Glucosuria
Recurrent urinary tract infections, Elevated hemoglobin A1c, Insulin resistance, Abnormal circula... ORPHA:69076
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy, Insulin resistance, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma ORPHA:330064
Insulin-Like Growth Factor I Deficiency
Osteopenia, Hyperactivity, Decreased serum insulin-like growth factor 1, Short stature, Elevated ... OMIM:608747
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Pruritus, Anorexia, Weight loss ORPHA:86893
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Tubulointerstitial nephritis, Colitis, Hypothyroidism, Psoriasiform dermatitis, Hyperth... ORPHA:37042
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Male hypogonadism, Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance OMIM:307500
Erythroderma Desquamativum
Failure to thrive, Seborrheic dermatitis ORPHA:314
Man1B1-Cdg
Truncal obesity, Broad-based gait, Polyphagia ORPHA:397941
Congenital Analbuminemia
Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... ORPHA:86816
Tetrasomy 12P
Joint hyperflexibility, Short stature, Cachexia ORPHA:884
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cachexia, Weight loss, Dysphagia ORPHA:298
Alstrom Syndrome
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Hypergonadotr... OMIM:203800
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, G... OMIM:615508
Cebalid Syndrome
Polyphagia, Congenital diaphragmatic hernia OMIM:618774
Secondary Short Bowel Syndrome
Central hypothyroidism, Growth delay, Weight loss, Primary hypothyroidism, Failure to thrive, Pol... ORPHA:95427
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Wolman Disease
Growth delay, Adrenal insufficiency, Adrenal calcification, Cachexia ORPHA:75233
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Netherton Syndrome
Recurrent skin infections, Allergic rhinitis, Eczema, Chronic rhinitis, Erythroderma, Failure to ... OMIM:256500
Anemia, Hypochromic Microcytic, With Iron Overload 1
Increased serum iron, Elevated hepatic iron concentration OMIM:206100
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Prop... ORPHA:54595
Eosinophilic Fasciitis
Fasciitis, Myositis, Weight loss, Arthritis, Cellulitis, Acrocyanosis ORPHA:3165
Hjv Or Hamp-Related Hemochromatosis
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... ORPHA:79230
Pityriasis Rubra Pilaris
Pruritus, Pustule, Eczema, Erythroderma ORPHA:2897
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... OMIM:608612
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Failure to thrive, Hypercholesterolemia, Neonatal hy... ORPHA:90674
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:616730
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hypoglycemia, Proteinuria, Abnormality of the kidney, Hyperlipidemia, Delayed puberty, Failure to... ORPHA:369
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Psoriasiform dermatitis, Failure to thrive in infancy, Eczema, Thyroiditis, Erythroderma, Chronic... OMIM:606367
Essential Fructosuria
Abnormal urine carbohydrate level, Hyperglycemia ORPHA:2056
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Pruritus, Craniofacial osteosclerosis, O... ORPHA:324964
Whipple Disease
Myositis, Pericarditis, Anorexia, Cachexia, Myocarditis, Hypothyroidism, Uveitis, Arthritis, Poly... ORPHA:3452
Chromosome Xq26.3 Duplication Syndrome
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... OMIM:300942
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Short stature, Cachexia ORPHA:1933
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Insulin ... OMIM:613327
X-Linked Intellectual Disability, Cabezas Type
Hyperactivity, Inguinal hernia, Short stature, Camptodactyly of finger, Cachexia, Aggressive beha... ORPHA:85293
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delay... OMIM:616033
Congenital Disorder Of Glycosylation, Type Iio
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616828
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Cachexia ORPHA:1438
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia OMIM:608898
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Ketotic hypoglycemia, Elevated circulating creatine kinase concentration, I... ORPHA:79240
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Increased... ORPHA:264580
Diabetes Mellitus, Permanent Neonatal, 3
Ketonuria, Small for gestational age, Glycosuria, Type I diabetes mellitus, Hyperglycemia OMIM:618857
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Prader-Willi Syndrome
Diabetes mellitus, Short stature, Decreased response to growth hormone stimulation test, Precocio... ORPHA:739
Pelizaeus-Merzbacher Disease
Short stature, Failure to thrive in infancy, Cachexia, Joint stiffness ORPHA:702
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
Omenn Syndrome
Pneumonia, Pruritus, Thyroiditis, Erythroderma, Failure to thrive, Hypothyroidism ORPHA:39041
Paternal Uniparental Disomy Of Chromosome 1
Short stature, Abnormal dental enamel morphology, Obesity, Delayed puberty, Polyphagia ORPHA:251004
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Proteinuria, Large for gestational age, Abnormal circulating fatty-acid concentration, Hyperinsul... ORPHA:263455
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis OMIM:231100
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Absence of subcutaneou... ORPHA:90160
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Flexion contracture, Growth delay... OMIM:609628
Agammaglobulinemia 9, Autosomal Recessive
Failure to thrive, Eczematoid dermatitis, Seborrheic dermatitis OMIM:619693
Nephrotic Syndrome, Type 2
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:600995
Prader-Willi Syndrome
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Short statu... OMIM:176270
Cronkhite-Canada Syndrome
Cachexia, Anorexia ORPHA:2930
Luscan-Lumish Syndrome
Polyphagia, Obesity, Short stature, Aggressive behavior OMIM:616831
Peroxisome Biogenesis Disorder 3B
Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia OMIM:266510
Trisomy 18P
Intrauterine growth retardation, Short stature, Polyphagia, Attention deficit hyperactivity disorder ORPHA:1715
Congenital Disorder Of Glycosylation, Type If
Failure to thrive, Flexion contracture, Erythroderma OMIM:609180
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Reduced intraabdominal adi... OMIM:608594
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:603552
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Mildly elevated creatine kinase, Hyperlipidemia OMIM:604484
Smith-Magenis Syndrome
Hypertriglyceridemia, Failure to thrive in infancy, Renal hypoplasia/aplasia, Precocious puberty,... ORPHA:819
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Cachexia ORPHA:42
X-Linked Dominant Chondrodysplasia Punctata
Abnormally ossified vertebrae, Short stature, Scarring alopecia of scalp, Neonatal epiphyseal sti... ORPHA:35173
Classic Hodgkin Lymphoma
Skin rash, Anorexia, Pruritus, Osteolysis, Weight loss ORPHA:391
Silver-Russell Syndrome
Short stature, Failure to thrive in infancy, Cachexia, Postnatal growth retardation, Precocious p... ORPHA:813
Idiopathic Copper-Associated Cirrhosis
Increased circulating copper concentration, Decreased circulating ceruloplasmin concentration ORPHA:209919
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum iron OMIM:613313
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... OMIM:605814
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... ORPHA:98855
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc... OMIM:618156
Rett Syndrome
Inability to walk, Bradykinesia, Gait disturbance, Agitation, Increased serum leptin, Difficulty ... ORPHA:778
Retinitis Pigmentosa
Hypoplasia of penis, Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II ... ORPHA:791
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Anorexia, Lymphadenitis, Abnormality of the parathyroid gland, ... ORPHA:2552
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Adrenal calcification, Increased L... OMIM:278000
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Increased urinary gl... ORPHA:247598
Generalized Pustular Psoriasis
Pustule, Overweight, Cheilitis, Uveitis, Obesity, Arthritis, Palmoplantar pustulosis, Erythroderma ORPHA:247353
Rett Syndrome
Cachexia, Short stature, Stereotypical hand wringing, Bruxism OMIM:312750
Intellectual Developmental Disorder, Autosomal Dominant 1
Short stature, Ataxia, Aggressive behavior, Postnatal growth retardation, Self-injurious behavior... OMIM:156200
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypopituitarism, Hypertriglyceridemia, Hypothyroidism, Hypoalbuminemia OMIM:619013
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Failure to thrive, Conjunctivitis, Short stature, Erythroderma OMIM:242150
Central Diabetes Insipidus
Anorexia, Weight loss, Polydipsia, Failure to thrive, Diabetes insipidus ORPHA:178029
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Hypoglycemia, Fasting hypoglycemia OMIM:613027
Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma OMIM:603776
Reticular Dysgenesis
Skin rash, Weight loss, Chronic otitis media, Failure to thrive, Aplasia/Hypoplasia of the thymus ORPHA:33355
Inflammatory Bowel Disease (Crohn Disease) 1
Ulcerative colitis, Weight loss, Growth delay, Inflammation of the large intestine, Recurrent aph... OMIM:266600
Seckel Syndrome 10
Diabetes mellitus, Impaired glucose tolerance, Elevated hemoglobin A1c, Elevated circulating lute... OMIM:617253
Bullous Pemphigoid
Diabetes mellitus, Psoriasiform dermatitis, Eczema, Weight loss ORPHA:703
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Postnatal growth retardation, Epiphyseal stippling, Stippled calcification in carpal ... OMIM:302960
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Reduced intraabdominal ... OMIM:269700
Copper Deficiency, Familial Benign
Failure to thrive, Seborrheic dermatitis OMIM:121270
Erythrokeratodermia Variabilis
Diabetes mellitus, Skin rash, Short stature, Weight loss ORPHA:317
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Steatorrhea, Hypocholesterolemia OMIM:607765
Diabetes Mellitus, Transient Neonatal, 3
Elevated hemoglobin A1c, Maternal diabetes, Transient neonatal diabetes mellitus, Reduced C-pepti... OMIM:610582
Papular Xanthoma
Hyperlipidemia ORPHA:158008
Galactose Epimerase Deficiency
Growth delay, Weight loss ORPHA:79238
Alopecia-Intellectual Disability Syndrome 4
Agitation, Erythroderma OMIM:618840
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... ORPHA:98863
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... ORPHA:98853
Familial Chylomicronemia Syndrome
Diabetes mellitus, Hypertriglyceridemia, Hyperlipidemia, Increased circulating chylomicron concen... ORPHA:444490
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis ORPHA:75563
Donohue Syndrome
Precocious puberty, Adipose tissue loss, Long penis, Hyperinsulinemia, Severe failure to thrive, ... OMIM:246200
Trichothiodystrophy 1, Photosensitive
Small for gestational age, Short stature, Flexion contracture, Absence of subcutaneous fat, Kerat... OMIM:601675
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:300635
Cog4-Cdg
Hypercholesterolemia, Failure to thrive in infancy ORPHA:263501
Fryns-Smeets-Thiry Syndrome
Joint hyperflexibility, Short stature, Cachexia ORPHA:2058
Generalized Pseudohypoaldosteronism Type 1
Osteomyelitis, Failure to thrive in infancy, Proportionate short stature, Pustule, Glucocortocoid... ORPHA:171876
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:618348
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Short stature, Recurr... ORPHA:47
Huntington Disease-Like 2
Weight loss ORPHA:98934
Juvenile Amyotrophic Lateral Sclerosis
Lower-limb joint contracture, Upper-limb joint contracture, Cachexia, Dysphagia ORPHA:300605
Focal Myositis
Myositis, Limitation of joint mobility, Weight loss ORPHA:48918
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Hypoproteinemia, Renal insufficiency, Congenital nephrotic syndrome,... OMIM:256300
Pseudohypoparathyroidism Type 1C
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79444
Peeling Skin Syndrome 1
Pruritus, Short stature, Erythroderma OMIM:270300
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids ORPHA:3085
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Mednik Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration ORPHA:171851
Immunodeficiency 109 With Lymphoproliferation
Hypertriglyceridemia OMIM:620282
Low Phospholipid-Associated Cholelithiasis
Overweight, Hypercholesterolemia, Diabetes mellitus, Obesity ORPHA:69663
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Hyp... OMIM:227810
Transketolase Deficiency
Proportionate short stature, Seborrheic dermatitis, Uveitis, Self-injurious behavior, Conjunctivi... ORPHA:488618
Mu-Heavy Chain Disease
Osteoporosis, Osteolysis, Weight loss ORPHA:100024
Harlequin Ichthyosis
Self-injurious behavior, Limitation of joint mobility, Erythroderma ORPHA:457
19Q13.11 Microdeletion Syndrome
Growth delay, Intrauterine growth retardation, Failure to thrive, Cachexia ORPHA:217346
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteopenia, Diabetes mellitus, Acne, Adrenal hyperplasia, Dorsocervical fat pad, Osteoporosis, In... OMIM:615830
Pseudohypoparathyroidism Type 1A
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79443
Bullous Diffuse Cutaneous Mastocytosis
Pruritus, Erythroderma ORPHA:280785
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hypertriglyceridemia OMIM:613101
Holocarboxylase Synthetase Deficiency
Eczema, Anorexia, Keratoconjunctivitis, Growth delay, Weight loss, Perioral eczema ORPHA:79242
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip... OMIM:606721
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss, Dysphagia ORPHA:2198
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:144010
Chylomicron Retention Disease
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia ORPHA:71
Panniculitis-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Absence of subcutaneou... ORPHA:90159
Seckel Syndrome
Short stature, Abnormal dental enamel morphology, Cachexia, Craniosynostosis, Joint hyperflexibil... ORPHA:808
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Hypopituitarism, Hypothyroidism, Hyperglycemia ORPHA:90065
7Q11.23 Microduplication Syndrome
Hyperactivity, Collectionism, Inguinal hernia, Short stature, Congenital diaphragmatic hernia, Ag... ORPHA:96121
Gaisböck Syndrome
Diabetes mellitus, Hypertriglyceridemia, Overweight, Obesity, Nephrocalcinosis, Hypernatriuria, H... ORPHA:90041
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion... ORPHA:189427
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T... ORPHA:470
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Restlessness, Broad-based gait, Aggressive behavior, Postnatal growth retardation, Polyphagia, Se... ORPHA:251028
Gangliocytoma
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... ORPHA:251937
Laryngotracheoesophageal Cleft Type 4
Cachexia ORPHA:93941
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... ORPHA:158057
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Wagro Syndrome
Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polyphagia OMIM:612469
Xfe Progeroid Syndrome
Severe short stature, Cachexia, Absence of subcutaneous fat, Corneal scarring, Enamel hypoplasia,... OMIM:610965
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Increased circulating fr... ORPHA:71212
Gracile Syndrome
Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ... ORPHA:53693
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hypoglycemia, Hyperuricemia ORPHA:364
Zinc Deficiency, Transient Neonatal
Decreased serum zinc OMIM:608118
Primary Myelofibrosis
Cachexia, Anorexia ORPHA:824
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus OMIM:520000
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Hyperammonemia, Hyperargininemia, Argininosuccinic aciduria, Elevated plasm... OMIM:603471
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Lamellar Ichthyosis
Chronic otitis media, Pruritus, Short stature, Erythroderma ORPHA:313
Intellectual Developmental Disorder, Fra12A Type
Erythroderma OMIM:136630
Short Stature, Dauber-Argente Type
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... OMIM:619489
H Syndrome
Diabetes mellitus, Lipodystrophy, Abnormality of the kidney, Hypertriglyceridemia, Camptodactyly,... ORPHA:168569
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Anorexia OMIM:175500
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum iron OMIM:604250
Ichthyosis Prematurity Syndrome
Pruritus, Allergic rhinitis, Erythroderma OMIM:608649
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... ORPHA:766
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Periostosis, Hyperostosis, Acne, Seborrheic dermatitis OMIM:614441
Isaacs Syndrome
Weight loss ORPHA:84142
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Proteinuria, Hypoglycemia, Hyperlipidemia, Stage 5 chronic kidney disease, ... ORPHA:79259
Glycogen Storage Disease Iii
Hyperlipidemia, Hypoglycemia, Elevated circulating creatine kinase concentration OMIM:232400
Thymic Neuroendocrine Tumor
Osteopenia, Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of the thymus, P... ORPHA:97289
Oculopharyngodistal Myopathy
Impaired oropharyngeal swallow response, Weight loss, Recurrent aspiration pneumonia, Oral-pharyn... ORPHA:98897
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Increased urinary glycerol, Hypoglycemia, Hypertriglyceridemia, Hyperg... OMIM:307030
Ichthyosis, Hystrix-Like, With Deafness
Scarring alopecia of scalp, Punctate keratitis, Erythroderma OMIM:602540
Netherton Syndrome
Skin rash, Eczema, Short stature, Erythroderma ORPHA:634
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Lymphadenitis, Growth delay, Inflammation of the large intestine, Erythroderma, Failure t... OMIM:615895
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Weight loss, Arthritis, Keratoconj... OMIM:617321
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of the thyroid gland, Cachexia, Short stature, Anorexia ORPHA:1969
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... OMIM:613239
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Lipodystrophy, Flexion contracture, Panniculitis, Failure to thrive OMIM:617591
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Short stature, Cachexia, Joint hyperflexibility, Thyroid carcinom... ORPHA:109
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis, Short stature, Decreased response to growth hormone stimulation test, Central diabetes ... ORPHA:293987
Tenorio Syndrome
Enuresis, Hypoglycemia, Hypoinsulinemia OMIM:616260
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Cachexia, Renal salt wasting, Abnormal... ORPHA:275761
Ichthyosis, Congenital, Autosomal Recessive 7
Erythroderma OMIM:615022
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:205400
Ichthyosis, Congenital, Autosomal Recessive 1
Flexion contracture, Erythroderma OMIM:242300
Focal Segmental Glomerulosclerosis 1
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:603278
Adnp Syndrome
Inguinal hernia, Short stature, Aggressive behavior, Oral-pharyngeal dysphagia, Truncal obesity, ... ORPHA:404448
Werner Syndrome
Diabetes mellitus, Hypogonadism, Elevated hemoglobin A1c, Hypertriglyceridemia OMIM:277700
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Erythroderma ORPHA:169154
Immunodeficiency 27A
Increased inflammatory response, Pneumonia, Anorexia, Weight loss, Salmonella osteomyelitis OMIM:209950
Wilson Disease
Aggressive behavior, Pruritus, Hypersexuality, Hepatitis, Increased body weight, Weight loss, Art... ORPHA:905
Perlman Syndrome
Hypoplasia of penis, Inguinal hernia, Femoral hernia, Hyperinsulinemia, Nephroblastoma ORPHA:2849
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Panniculitis, Hypertriglyceridemia OMIM:618398
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia OMIM:618970
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma OMIM:133200
Celiac Disease, Susceptibility To, 1
Short stature, Eczema, Postnatal growth retardation, Osteoporosis, Thyroiditis, Rickets, Weight l... OMIM:212750
Omenn Syndrome
Failure to thrive, Hypoplasia of the thymus, Pneumonia, Erythroderma OMIM:603554
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... OMIM:207750
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyuria, Elevated circulating thyroid-stimulating hormone co... OMIM:618183
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteopenia, Seborrheic dermatitis, Limitation of joint mobility, Osteoporosis, Osteolytic defects... OMIM:259100
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia, Skin rash, Short stature ORPHA:220295
Epidermolytic Hyperkeratosis 1
Erythroderma OMIM:113800
Pfapa Syndrome
Arthritis, Infectious encephalitis, Weight loss ORPHA:42642
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... ORPHA:1227
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... ORPHA:64753
Poems Syndrome
Sclerosis of hand bone, Diabetes mellitus, Lipodystrophy, Sclerosis of foot bone, Abnormality of ... ORPHA:2905
Pseudomyxoma Peritonei
Inflammation of the large intestine, Hernia, Weight loss ORPHA:26790
Idiopathic Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Pruritus,... ORPHA:90158
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Decreased LDL cholesterol concentration, Elevated circulating creatine kina... ORPHA:96180
Pachydermoperiostosis
Osteomyelitis, Acne, Elevated circulating growth hormone concentration, Seborrheic dermatitis, Li... ORPHA:2796
Protoporphyria, Erythropoietic, 1
Hypertriglyceridemia OMIM:177000
Aceruloplasminemia
Increased circulating ferritin concentration, Aceruloplasminemia, Decreased serum iron OMIM:604290
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity ORPHA:209902
Benign Recurrent Intrahepatic Cholestasis
Pruritus, Pancreatitis, Anorexia, Weight loss ORPHA:65682
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Pemphigus Foliaceus
Psoriasiform dermatitis, Pruritus, Pustule, Crusting erythematous dermatitis, Erythroderma ORPHA:79481
Ichthyosis, Congenital, Autosomal Recessive 10
Erythroderma OMIM:615024
Schwartz-Jampel Syndrome
Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Short stature, Sh... ORPHA:800
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Ketonuria, Hypoglycemia, Hyperammonemia, Hyperglycemia, Failure to thrive OMIM:615453
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Epidermolytic Hyperkeratosis 2
Erythroderma OMIM:620150
Short Syndrome
Inguinal hernia, Lipoatrophy, Lipodystrophy, Small for gestational age, Insulin-resistant diabete... OMIM:269880
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:609812
Camurati-Engelmann Disease
Anorexia, Cachexia, Abnormal subcutaneous fat tissue distribution, Craniofacial osteosclerosis, L... ORPHA:1328
Hirschsprung Disease
Neoplasm of the thyroid gland, Short stature, Failure to thrive in infancy, Weight loss ORPHA:388
Acquired Central Diabetes Insipidus
Polydipsia, Diabetes insipidus, Weight loss ORPHA:95626
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... OMIM:615947
Bathing Suit Ichthyosis
Multiple joint contractures, Erythroderma ORPHA:100976
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia OMIM:607485
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Dysphagia, Weight loss, Pheochromocytoma, Elevated circulating calci... ORPHA:1332
Pleural Mesothelioma
Weight loss, Dysphagia ORPHA:50251
Atypical Werner Syndrome
Renal neoplasm, Failure to thrive, Diabetes mellitus, Lipoatrophy, Hypertriglyceridemia, Abnormal... ORPHA:79474
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Short stature, Decreased response to growth hormone stimulation test, Abnormal rep... OMIM:615873
Pemphigus Vulgaris
Atypical scarring of skin, Recurrent cutaneous abscess formation, Weight loss ORPHA:704
Combined Oxidative Phosphorylation Deficiency 54
Hyperglycemia, Hypergonadotropic hypogonadism, Obesity OMIM:619737
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Hypospadias, Camptodactyly of toe, Umbilical hernia, Hyperglycemia, Joint contra... OMIM:175700
Felty Syndrome
Episcleritis, Pericarditis, Sinusitis, Recurrent pneumonia, Limitation of joint mobility, Osteoly... ORPHA:47612
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated hepatic i... OMIM:615234
Mpi-Cdg
Failure to thrive, Hypothyroidism, Hypoalbuminemia, Hyperinsulinemic hypoglycemia ORPHA:79319
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss, Increased susceptibility to fractures, Attention deficit hyperactivity disorder, Dys... ORPHA:216866
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... ORPHA:31205
Familial Hemophagocytic Lymphohistiocytosis
Skin rash, Maculopapular exanthema, Colitis, Erythroderma, Infectious encephalitis ORPHA:540
Lymphoid Interstitial Pneumonia
Skin rash, Eczema, Bronchiectasis, Weight loss, Hypoxemia, Keratoconjunctivitis sicca, Abnormalit... ORPHA:79128
Infantile Krabbe Disease
Failure to thrive, Cachexia ORPHA:206436
Juvenile Huntington Disease
Hyperactivity, Weight loss ORPHA:248111
Trisomy 18
Omphalocele, Short stature, Camptodactyly of finger, Cachexia, Congenital diaphragmatic hernia, G... ORPHA:3380
Weaver Syndrome
Inguinal hernia, Camptodactyly, Umbilical hernia, Joint contracture of the hand, Polyphagia OMIM:277590
Cryptogenic Organizing Pneumonia
Hypoxemia, Cyanosis, Anorexia, Weight loss ORPHA:1302
Bone Dysplasia, Lethal Holmgren Type
Rhizomelia, Weight loss, Joint hyperflexibility, Severe short-limb dwarfism, Hernia, Failure to t... ORPHA:1842
Idiopathic Hypereosinophilic Syndrome
Myelofibrosis, Inflammatory abnormality of the skin, Eczema, Cholangitis, Pruritus, Dysphagia, Ch... ORPHA:3260
Takayasu Arteritis
Increased inflammatory response, Anorexia, Weight loss, Arthritis, Inflammatory abnormality of th... ORPHA:3287
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma OMIM:277460
Chromosome 22Q13 Duplication Syndrome
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity OMIM:615538
Xp21 Deletion Syndrome
Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine kinase concent... ORPHA:261476
Epidermodysplasia Verruciformis
Pustule, Recurrent skin infections, Seborrheic dermatitis ORPHA:302
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Abnormality of the pineal gland, Eczema, Aggressive behavior, Seborrheic dermatitis, Tongue thrus... ORPHA:369950
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatr... ORPHA:534
Sézary Syndrome
Pruritus, Erythroderma ORPHA:3162
Aggressive Systemic Mastocytosis
Maculopapular exanthema, Anorexia, Pruritus, Osteoporosis, Osteolysis, Weight loss, Pathologic fr... ORPHA:98850
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemia, Lipodystrophy, ... OMIM:256040
Hypercalcemia, Infantile, 1
Failure to thrive, Decreased circulating parathyroid hormone level, Weight loss OMIM:143880
Immunodeficiency 31C
Osteopenia, Osteomyelitis, Short stature, Eczema, Diabetes mellitus, Bronchiectasis, Chronic muco... OMIM:614162
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Lipoatrophy, Pulmonary carcinoid tumor, Papillary renal cell carcinoma, Hyp... ORPHA:363618
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Candidiasis, Familial, 8
Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis OMIM:615527
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, E... ORPHA:465508
Bardet-Biedl Syndrome 20
Proteinuria, Hypercholesterolemia, Obesity, Male hypogonadism, Micropenis OMIM:619471
Immunodeficiency 25
Recurrent pneumonia, Erythroderma OMIM:610163
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Weight loss, Slender build, Cachexia, Dysphagia OMIM:603041
Neuhauser Syndrome
Hypercholesterolemia, Primary hypothyroidism OMIM:249310
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Weight loss OMIM:191390
Huntington Disease-Like 2
Weight loss OMIM:606438
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... OMIM:603553
Graft Versus Host Disease
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Li... ORPHA:39812
Congenital Disorder Of Glycosylation, Type Ib
Renal cyst, Proximal tubulopathy, Hypoalbuminemia, Steatorrhea, Hyperinsulinemic hypoglycemia, Fa... OMIM:602579
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoplasia of the thymus OMIM:619313
Osteosarcoma
Pathologic fracture, Osteolysis, Weight loss ORPHA:668
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Recurrent pneumonia, Recurrent otitis media, Fai... ORPHA:277
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Decreased serum insulin-like growth factor 1, Hypertrigl... ORPHA:77293
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Hypercholesterolemia, Camptodactyly of finger, Elevated c... OMIM:309000
Classical-Like Ehlers-Danlos Syndrome Type 2
Ventral hernia, Inguinal hernia, Widened atrophic scar, Diabetes mellitus, Hypertriglyceridemia, ... ORPHA:536532
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia, Hypothyroidism ORPHA:2479
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Episodic hypokalemia, Adrenocortical adenoma, Mildly elevated creatin... ORPHA:681
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... OMIM:238600
Bile Acid Synthesis Defect, Congenital, 5
Increased serum bile acid concentration, Increased total iron binding capacity, Hyperbilirubinemia OMIM:616278
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, Hypercalciuria, Rena... ORPHA:369837
Pneumocystosis
Weight loss, Acute infectious pneumonia, Hypoxemia, Interstitial pneumonitis, Chronic oral candid... ORPHA:723
Carnitine Palmitoyltransferase I Deficiency
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperammonemia, Renal ... OMIM:255120
Trichothiodystrophy
Osteopenia, Congenital exfoliative erythroderma, Increased bone mineral density, Multiple joint c... ORPHA:33364
Spinocerebellar Ataxia 34
Erythroderma OMIM:133190
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Weight loss ORPHA:1164
Estrogen Resistance
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... OMIM:615363
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Disproportionate short stature, Delayed ossification of carpal bones, Erythroderma OMIM:617425
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Ac... ORPHA:424
Diffuse Cutaneous Mastocytosis
Pruritus, Erythroderma ORPHA:79456
Methanol Poisoning
Type I diabetes mellitus, Hyperlipidemia, Type II diabetes mellitus ORPHA:31825
Bronchial Neuroendocrine Tumor
Pneumonia, Anorexia, Elevated circulating growth hormone concentration, Increased circulating ACT... ORPHA:97287
Rabson-Mendenhall Syndrome
Increased pineal volume, Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Precoci... ORPHA:769
Isolated Succinate-Coq Reductase Deficiency
Severe short stature, Proportionate short stature, Weight loss, Knee flexion contracture, Intraut... ORPHA:3208
Familial Multiple Lipomatosis
Insulin resistance, Lipodystrophy, Hyperlipidemia, Increased adipose tissue ORPHA:199276
Eosinophilic Granulomatosis With Polyangiitis
Increased inflammatory response, Myositis, Sinusitis, Skin rash, Myocarditis, Endocarditis, Weigh... ORPHA:183
1P36 Deletion Syndrome
Short stature, Camptodactyly of finger, Hypothyroidism, Polyphagia, Obesity, Self-injurious behav... ORPHA:1606
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Steatorrhea, Hy... ORPHA:14
Cholestasis, Progressive Familial Intrahepatic, 8
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... OMIM:619662
Idiopathic Chronic Eosinophilic Pneumonia
Hypoxemia, Atopic dermatitis, Weight loss ORPHA:2902
Eosinophilic Gastroenteritis
Weight loss, Atopic dermatitis, Allergic rhinitis, Dysphagia ORPHA:2070
Marfan Syndrome
Osteopenia, Inguinal hernia, Arthralgia/arthritis, Limited elbow movement, Cachexia, Osteoporosis... ORPHA:558
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Decreased circulating cortisol level, Anorexia, Pituitary adenoma, Decreased ... ORPHA:199299
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy, Failure to thrive, Neonatal hyp... OMIM:619418
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia, Hypospadias OMIM:610644
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Inguinal hernia, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic derm... ORPHA:83617
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Hypoxemia, Bronchiectasis, Weight loss ORPHA:79127
Cockayne Syndrome
Reduced subcutaneous adipose tissue, Severe short stature, Diabetes mellitus, Cachexia, Postnatal... ORPHA:191
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the up... ORPHA:99885
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Failure to thrive, Seborrheic dermatitis OMIM:210210
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... ORPHA:157
Macrophage Activation Syndrome
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir... ORPHA:158061
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Steatorrhea, Hypocholesterolemia OMIM:212065
Anaplastic Thyroid Carcinoma
Weight loss, Anaplastic thyroid carcinoma, Dysphagia, Nodular goiter, Goiter ORPHA:142
Immunodeficiency 97 With Autoinflammation
Increased circulating ferritin concentration, Recurrent urinary tract infections, Hypertriglyceri... OMIM:619802
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Limb joint contracture, Short stature, Seborrheic dermatitis, Flexion contracture, Truncal obesit... OMIM:301072
Acrodermatitis Enteropathica
Short stature, Anorexia, Pustule, Cheilitis, Weight loss, Conjunctivitis, Failure to thrive, Blep... ORPHA:37
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Periosteal thickening of long tubular bones, Acne, Seborrheic dermatitis OMIM:167100
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... OMIM:168000
Alagille Syndrome 1
Duplicated collecting system, Hypertriglyceridemia, Multiple small medullary renal cysts, Stage 5... OMIM:118450
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Mild postnatal growth retardation, Joint stiffness, Iridocyclitis, Knee osteoarthritis, Oligoarth... ORPHA:85408
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Diabetes mellitus, Obesity, Pineal cyst, Abnormal circulating creatine kina... ORPHA:98908
Cholestasis-Lymphedema Syndrome
Multiple lipomas, Hyperlipidemia, Abnormality of urine homeostasis ORPHA:1414
Leprechaunism
Reduced subcutaneous adipose tissue, Insulin resistance, Long penis, Hyperinsulinemia, Hypercalci... ORPHA:508
Nestor-Guillermo Progeria Syndrome
Short stature, Lipoatrophy, Decreased serum leptin, Flexion contracture, Growth delay, Failure to... OMIM:614008
Alg12-Cdg
Hyponatremia, Hypoalbuminemia, Hypocholesterolemia ORPHA:79324
Short Syndrome
Inguinal hernia, Diabetes mellitus, Severe short stature, Abnormal dental enamel morphology, Lipo... ORPHA:3163
Ichthyosis, Congenital, Autosomal Recessive 9
Erythroderma OMIM:615023
Aapoaiv Amyloidosis
Diabetes mellitus, Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid dep... ORPHA:439232
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Leishmaniasis
Rhinitis, Anorexia, Weight loss ORPHA:507
Glycogen Storage Disease Ia
Proteinuria, Hypoglycemia, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, X... OMIM:232200
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr... ORPHA:90363
Familial Gestational Hyperthyroidism
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... ORPHA:99819
Keppen-Lubinsky Syndrome
Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan... OMIM:614098
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... ORPHA:785
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Beta-Ketothiolase Deficiency
Ketonuria, Hypoglycemia, Hyperammonemia, Weight loss, Hyperuricemia, Hyperglycemia ORPHA:134
Follicular Lymphoma
Weight loss ORPHA:545
Centrifugal Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Lack of f... ORPHA:90156
Cole Disease
Hyperglycemia, Abnormal blood phosphate concentration OMIM:615522
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para... OMIM:605373
Ichthyosis, Congenital, Autosomal Recessive 5
Erythroderma OMIM:604777
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E... ORPHA:228308
Addison Disease
Hypoparathyroidism, Failure to thrive, Salt craving, Decreased circulating cortisol level, Adrena... ORPHA:85138
Aicardi-Goutieres Syndrome 9
Acute pancreatitis, Pericarditis, Chilblains, Osteoporosis, Weight loss, Intrauterine growth reta... OMIM:619487
Kaposi Sarcoma
Skin rash, Weight loss ORPHA:33276
Nijmegen Breakage Syndrome
Cachexia, Recurrent pneumonia, Short stature, Attention deficit hyperactivity disorder ORPHA:647
Peritoneal Cystic Mesothelioma
Peritonitis, Weight loss ORPHA:168816
Mast Cell Sarcoma
Weight loss ORPHA:66661
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Flexion contracture, Hyperg... OMIM:609069
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Obesity, Abnormal circulating creatine kinase concentration ORPHA:98907
Ichthyosis, Congenital, Autosomal Recessive 6
Erythroderma OMIM:612281
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Hyperinsulinemia, Elevated cir... ORPHA:230
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Proteinuria, Elevated hemoglobin A1c, Flexion contracture, Generalized lipo... OMIM:619127
Gm1 Gangliosidosis
Inguinal hernia, Short stature, Camptodactyly of finger, Joint stiffness, Weight loss, Aspiration... ORPHA:354
Sitosterolemia 1
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... OMIM:210250
Cap Polyposis
Atrophic gastritis, Weight loss ORPHA:160148
Complement Component 5 Deficiency
Generalized seborrheic dermatitis OMIM:609536
Malignant Peritoneal Mesothelioma
Peritonitis, Weight loss ORPHA:168811
Isolated Sedoheptulokinase Deficiency
Renal insufficiency, Inguinal hernia, Flexion contracture, Steatorrhea, Postprandial hyperglycemi... ORPHA:440713
Stickler Syndrome
Short stature, Abnormal dental enamel morphology, Cachexia, Osteoarthritis, Uveitis, Reduced bone... ORPHA:828
Juvenile Polyposis Of Infancy
Subcutaneous lipoma, Short stature, Cachexia ORPHA:79076
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Seborrheic dermatitis OMIM:104570
Necrotizing Enterocolitis
Hyponatremia, Hyperglycemia, Small for gestational age, Abnormal glucose homeostasis ORPHA:391673
Perry Syndrome
Weight loss ORPHA:178509
Neuroendocrine Tumor Of The Colon
Anorexia, Weight loss, Increased serum serotonin, Atypical pulmonary carcinoid tumor, Carcinoid t... ORPHA:100080
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Hyperthyroidism, Weight loss OMIM:188580
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Inguinal hernia, Hyperthyroidism, Acne, Short stature, Abnormal dental enamel... ORPHA:567
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Hypoglycemia, L... ORPHA:3008
Huntington Disease-Like 1
Restlessness, Weight loss ORPHA:157941
Parathyroid Carcinoma
Primary hyperparathyroidism, Osteoporosis, Abnormal parathyroid morphology, Weight loss, Elevated... ORPHA:143
Biotinidase Deficiency
Skin rash, Conjunctivitis, Recurrent skin infections, Seborrheic dermatitis OMIM:253260
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Broad-based gait, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious beha... OMIM:620330
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis OMIM:610227
Oromandibular Dystonia
Weight loss, Dysphagia, Bruxism ORPHA:93958
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Decreased transferrin saturation, Increased circulating ferritin concentration, Increased serum i... ORPHA:300298
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Insulin resistance, Hyperlipidemia, Generalized lipodystrophy, Delayed puberty ORPHA:90154
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Panniculitis, Weight loss ORPHA:86884
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Aggressive behavior, Hypothyroidism, Obesity, Congenital hypothyroidism,... OMIM:607872
Nodular Non-Suppurative Panniculitis
Panniculitis, Inflammatory abnormality of the eye, Weight loss ORPHA:33577
Polymyositis
Pericarditis, Anorexia, Weight loss, Arthritis, Chondrocalcinosis ORPHA:732
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Thymic Carcinoma
Neoplasm of the thymus, Weight loss ORPHA:99868
Rheumatoid Arthritis
Weight loss, Rheumatoid arthritis, Joint stiffness OMIM:180300
Perry Syndrome
Inappropriate behavior, Disinhibition, Weight loss OMIM:168605
Glucagonoma
Diabetes mellitus, Skin rash, Subcutaneous lipoma, Anorexia, Elevated circulating growth hormone ... ORPHA:97280
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature adrenarche, Acne, Short stature, Hypogonadotropic... ORPHA:90794
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Proteinuria, Abnormality of thyroid physiology, Small for gestational age, Min... ORPHA:1830
Ménétrier Disease
Giant hypertrophic gastritis, Anorexia, Weight loss ORPHA:2494
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cachexia, Growth delay, Abnormal temper tantrums, Bacterial endocarditis, Delayed puberty ORPHA:2072
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Weight loss ORPHA:133
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Hyperlipidemia OMIM:214900
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Wide penis, Vesicoureteral reflux, Dilatat... ORPHA:3455
Multiple Endocrine Neoplasia Type 1
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e... ORPHA:652
Refractory Celiac Disease
Inflammatory abnormality of the skin, Osteoporosis, Weight loss ORPHA:398063
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia OMIM:244450
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Skin rash, Hypogonadotropic hypogonadism, Osteolys... ORPHA:35687
Griscelli Syndrome Type 1
Hyperlipidemia ORPHA:79476
Beta-Thalassemia
Abnormality of iron homeostasis ORPHA:848
Acute Monoblastic/Monocytic Leukemia
Central hypothyroidism, Anorexia, Weight loss ORPHA:514
Polyarteritis Nodosa
Pericarditis, Weight loss ORPHA:767
Digeorge Syndrome
Inguinal hernia, Acne, Short stature, Parathyroid agenesis, Seborrheic dermatitis, Decreased circ... OMIM:188400
19P13.12 Microdeletion Syndrome
Hypospadias, Precocious puberty, Hyperlipidemia, Obesity, Arthrogryposis multiplex congenita, Hyp... ORPHA:254346
Neuroendocrine Tumor Of The Rectum
Anorexia, Weight loss, Increased serum serotonin, Atypical pulmonary carcinoid tumor, Carcinoid t... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Anorexia, Weight loss, Increased serum serotonin, Atypical pulmonary carcinoid tumor, Carcinoid t... ORPHA:100082
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Salt craving, Anorexia, Adrenal hypoplasia, Primary adrenal... ORPHA:95409
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... ORPHA:79102
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia ORPHA:98870
Reactive Arthritis
Pericarditis, Osteomyelitis, Joint stiffness, Pustule, Enthesitis, Weight loss, Arthritis, Inflam... ORPHA:29207
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Nocardiosis
Pericarditis, Osteomyelitis, Pneumonia, Anorexia, Keratitis, Lymphadenitis, Peritonitis, Thyroidi... ORPHA:31204
Steinert Myotonic Dystrophy
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... ORPHA:273
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Paraganglioma, Weight loss ORPHA:94080
Immunodeficiency 47
Hypercholesterolemia, Failure to thrive, Decreased circulating copper concentration OMIM:300972
Pancreatic Triacylglycerol Lipase Deficiency
Osteomalacia, Osteoporosis, Rickets, Weight loss, Growth delay, Keratoconjunctivitis sicca, Colitis ORPHA:309031
Glycogen Storage Disease Ib
Proteinuria, Hypoglycemia, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, X... OMIM:232220
Rhabdoid Tumor
Weight loss ORPHA:69077
Pulmonary Non-Tuberculous Mycobacterial Infection
Bronchiectasis, Weight loss ORPHA:411703
8P23.1 Microdeletion Syndrome
Short stature, Congenital diaphragmatic hernia, Obesity, Weight loss, Growth delay, Attention def... ORPHA:251071
Liposarcoma
Weight loss ORPHA:69078
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hip contracture, Seborrheic dermatitis, Large for gestational age, Flexion contracture, Elbow fle... OMIM:300868
Letterer-Siwe Disease
Stomatitis, Seborrheic dermatitis OMIM:246400
Osteootohepatoenteric Syndrome
Recurrent fractures, Pruritus, Weight loss, Reduced bone mineral density, Failure to thrive OMIM:619377
Peripheral Primitive Neuroectodermal Tumor
Anorexia, Pruritus, Precocious puberty, Weight loss, Pancreatitis ORPHA:370348
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Hypospadias, Lipoatrophy, Small for ge... OMIM:264090
Aromatase Deficiency
Eunuchoid habitus, Hypergonadotropic hypogonadism, Insulin resistance, Hyperlipidemia, Obesity, T... ORPHA:91
Fatal Familial Insomnia
Weight loss, Dysphagia OMIM:600072
Q Fever
Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Anorexia, Myocarditis, Hepatitis... ORPHA:781
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Failure to thrive, Ankle flexion contracture, Hypercapnia, Flexion contracture, ... ORPHA:2020
Ppoma
Subcutaneous lipoma, Anorexia, Elevated circulating growth hormone concentration, Abnormality of ... ORPHA:97278
Carney-Stratakis Syndrome
Weight loss, Paraganglioma, Dysphagia ORPHA:97286
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Vipoma
Diabetes mellitus, Subcutaneous lipoma, Follicular thyroid carcinoma, Anorexia, Elevated circulat... ORPHA:97282
Diffuse Alveolar Hemorrhage
Hypoxemia, Weight loss ORPHA:90060
Juvenile Dermatomyositis
Myositis, Pericarditis, Skin rash, Pruritus, Limitation of joint mobility, Weight loss, Arthritis... ORPHA:93672
Postinfectious Vasculitis
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... ORPHA:48435
Deafness-Lymphedema-Leukemia Syndrome
Chronic otitis media, Weight loss ORPHA:3226
Somatostatinoma
Diabetes mellitus, Subcutaneous lipoma, Elevated circulating growth hormone concentration, Anorex... ORPHA:97283
Mitchell-Riley Syndrome
Hyperglycemia, Diabetes mellitus, Hyperbilirubinemia OMIM:615710
Proteus Syndrome
Thymus hyperplasia, Abnormal dental enamel morphology, Cachexia, Craniosynostosis, Joint stiffnes... ORPHA:744
Dubowitz Syndrome
Hypocholesterolemia OMIM:223370
Systemic Capillary Leak Syndrome
Myocarditis, Pericarditis, Pancreatitis, Weight loss ORPHA:188
Tsh-Secreting Pituitary Adenoma
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hy... ORPHA:91347
Mucolipidosis Type Ii
Hip contracture, Inguinal hernia, Short stature, Craniosynostosis, Limited wrist movement, Postna... ORPHA:576
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Decreased response to growth hormone st... ORPHA:3464
Congenital Tufting Enteropathy
Arthritis, Punctate keratitis, Failure to thrive, Weight loss ORPHA:92050
Acute Promyelocytic Leukemia
Stomatitis, Addictive alcohol use, Anorexia, Weight loss ORPHA:520
Thymoma
Myositis, Glomerulonephritis, Ulcerative colitis, Weight loss, Rheumatoid arthritis, Neoplasm of ... ORPHA:99867
Glycogen Storage Disease Ic
Renal insufficiency, Proteinuria, Hypoglycemia, Hyperlipidemia, Hematuria, Focal segmental glomer... OMIM:232240
Monosomy 22
Contractures of the large joints, Aplasia of the thymus, Seborrheic dermatitis ORPHA:96123
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis, Weight loss ORPHA:747
Neuroendocrine Tumor Of Stomach
Anorexia, Increased circulating ACTH level, Weight loss, Atypical pulmonary carcinoid tumor, Para... ORPHA:100075
Grfoma
Subcutaneous lipoma, Anorexia, Elevated circulating growth hormone concentration, Neoplasm of the... ORPHA:97261
Hemihyperplasia-Multiple Lipomatosis Syndrome
Multiple lipomas, Lipoatrophy, Seborrheic dermatitis ORPHA:276280
Giant Cell Arteritis
Pericarditis, Anorexia, Joint stiffness, Weight loss, Arthritis, Diabetes insipidus ORPHA:397
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Anorexia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Panc... ORPHA:99889
Norrie Disease
Diabetes mellitus, Cachexia, Self-injurious behavior, Attention deficit hyperactivity disorder, D... ORPHA:649
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Diabete... OMIM:241080
Inflammatory Pseudotumor Of The Liver
Diabetes mellitus, Weight loss ORPHA:90003
Igg4-Related Aortitis
Increased inflammatory response, Weight loss ORPHA:449400
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Skin rash, Perianal abscess, Weight loss, Arthritis, Inflammation of the large... OMIM:301074
Gallbladder Neuroendocrine Tumor
Neuroendocrine neoplasm, Cholecystitis, Anorexia, Weight loss ORPHA:100086
Igg4-Related Retroperitoneal Fibrosis
Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, Anorexia, Weight loss,... ORPHA:49041
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Skin rash, Pneumonia, Recurrent skin infections, Gastritis, Osteomalacia, Anorexia... OMIM:619381
Chédiak-Higashi Syndrome
Hyponatremia, Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia ORPHA:167
Primary Hepatic Neuroendocrine Carcinoma
Anorexia, Weight loss, Increased serum serotonin, Neuroendocrine neoplasm, Carcinoid tumor ORPHA:100085
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Brucellosis
Anterior uveitis, Pericarditis, Osteomyelitis, Small for gestational age, Pneumonia, Glomerulonep... ORPHA:1304
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Limb joint contracture, Small for gestational age, Decreased resting energy expenditure, Inabilit... ORPHA:404454
Loeffler Endocarditis
Pericarditis, Weight loss ORPHA:75566
Behçet Disease
Increased inflammatory response, Myositis, Pericarditis, Acne, Anorexia, Orchitis, Retrobulbar op... ORPHA:117
Dend Syndrome
Hyperglycemia, Elevated hemoglobin A1c ORPHA:79134
Nephroblastoma
Weight loss ORPHA:654
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Omphalocele, Inguinal hernia, Recurrent skin infections, Eczema, Short stature, Keratitis, Growth... OMIM:308205
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia ORPHA:158048
Immunodeficiency 87 And Autoimmunity
Hypokalemia, Hypertriglyceridemia, Small for gestational age, Elevated circulating C-reactive pro... OMIM:619573
Tropical Pancreatitis
Insulin-dependent but ketosis-resistant diabetes, Chronic calcifying pancreatitis, Maternal diabe... ORPHA:103918
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Inflammatory abnormality of the skin, Short stature, Eczema, Abnormality of the endoc... ORPHA:391487
Lynch Syndrome
Pituitary adenoma, Flexion contracture, Weight loss, Attention deficit hyperactivity disorder, Ne... ORPHA:144
Hutchinson-Gilford Progeria Syndrome
Cyanosis, Female hypogonadism, Decreased serum leptin, Insulin resistance, Absence of subcutaneou... ORPHA:740
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Hypoglycemia, Lacticaciduria, Tubulointerstitial nephritis, Aminoaciduria, Recu... OMIM:124000
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hypocholesterolemia OMIM:270400
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Skin rash, Pneumonia, Chilblains, Hepatitis, Atopic dermatitis, Weight loss, ... OMIM:615846
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dark urine, Renal insufficiency, Inguinal hernia, Failure to thrive, Anterior pituitary hypoplasi... OMIM:619534
Polycythemia Vera
Pruritus, Myelofibrosis, Weight loss ORPHA:729
Alström Syndrome
Decreased response to growth hormone stimulation test, Urinary incontinence, Functional abnormali... ORPHA:64
Budd-Chiari Syndrome
Peritonitis, Cholecystitis, Weight loss ORPHA:131
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney... ORPHA:567546
Thrombocytopenia-Absent Radius Syndrome
Carpal synostosis, Fused cervical vertebrae, Short stature, Seborrheic dermatitis OMIM:274000
Familial Colorectal Cancer Type X
Pituitary adenoma, Flexion contracture, Weight loss, Attention deficit hyperactivity disorder, Ne... ORPHA:440437
Glossopharyngeal Neuralgia
Weight loss, Oral-pharyngeal dysphagia ORPHA:221098
Sarcoidosis, Susceptibility To, 1
Anorexia, Iridocyclitis, Bone cyst, Bronchiectasis, Uveitis, Weight loss, Hypoxemia, Arthritis, I... OMIM:181000
Gerstmann-Straussler Disease
Weight loss, Aggressive behavior OMIM:137440
Hereditary Late-Onset Parkinson Disease
Weight loss, Agitation, Impulsivity, Dysphagia ORPHA:411602
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Pyomyositis
Recurrent cutaneous abscess formation, Myositis, Weight loss ORPHA:764
Mandibuloacral Dysplasia With Type A Lipodystrophy
Insulin resistance, Flexion contracture, Hyperlipidemia ORPHA:90153
Riddle Syndrome
Short stature, Pneumonia, Recurrent pneumonia, Weight loss, Arthritis, Otitis media, Recurrent si... ORPHA:420741
Combined Deficiency Of Factor V And Factor Viii
Hematuria, Hyperlipidemia, Hyperuricemia ORPHA:35909
Granulomatosis With Polyangiitis
Episcleritis, Sinusitis, Keratitis, Uveitis, Weight loss, Conjunctivitis, Chronic otitis media OMIM:608710
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Keratitis, Weight loss, Aspiration pneumonia, Dysphagia, Failure to thrive ORPHA:1018
Cystinosis, Nephropathic
Diabetes mellitus, Short stature, Failure to thrive in infancy, Oral-pharyngeal dysphagia, Ricket... OMIM:219800
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Inguinal hernia, Diabetes mellitus, Congenital diaphragmatic hernia, Aplasi... OMIM:600001
Alveolar Echinococcosis
Cholangitis, Bone cyst, Weight loss, Abnormal adrenal morphology, Cutaneous abscess ORPHA:284
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pruritus, Weight loss, Osteoporosis, Increased susceptibility to fractures ORPHA:98849
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... OMIM:235400
Cystic Echinococcosis
Membranous nephropathy, Bone cyst, Weight loss ORPHA:400
Wild Type Attr Amyloidosis
Weight loss ORPHA:330001
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Weight l... ORPHA:276621
Imerslund-Gräsbeck Syndrome
Failure to thrive, Angular cheilitis, Weight loss ORPHA:35858
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Weight loss OMIM:256700
Dermatomyositis
Pericarditis, Pruritus, Myocarditis, Weight loss, Arthritis, Cellulitis, Acrocyanosis, Chondrocal... ORPHA:221
Simple Cryoglobulinemia
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Weight loss, Arthritis, ... ORPHA:91139
Griscelli Syndrome Type 2
Hyperlipidemia ORPHA:79477
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Elevated hepatic iron concentration ORPHA:231222
Granulomatosis With Polyangiitis
Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Diabetes insipidus, Weight l... ORPHA:900
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Weight l... ORPHA:29072
Familial Pancreatic Carcinoma
Diabetes mellitus, Anorexia, Weight loss ORPHA:1333
Primary Sclerosing Cholangitis
Osteopenia, Pruritus, Osteoporosis, Thyroiditis, Ulcerative colitis, Hepatitis, Uveitis, Weight l... ORPHA:171
Caroli Disease
Pruritus, Cholangitis, Anorexia, Weight loss ORPHA:53035
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Hyperglycinemia, Increased total iron binding capa... ORPHA:309854
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Acute colitis, Weight loss ORPHA:67
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss ORPHA:54251
Toxic Epidermal Necrolysis
Weight loss, Conjunctivitis, Dysphagia, Polydipsia, Pancreatitis ORPHA:537
Primary Intestinal Lymphangiectasia
Growth delay, Weight loss ORPHA:90362
Pulmonary Alveolar Microlithiasis
Cyanosis, Bronchiectasis, Weight loss, Hypoxemia, Stippled calcification in carpal bones, Oxygen ... ORPHA:60025
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Anorexia, Weight loss ORPHA:20
Malignant Atrophic Papulosis
Peritonitis, Arteritis, Weight loss ORPHA:679
Familial Thrombocytosis
Pruritus, Weight loss ORPHA:71493
Hereditary Amyloidosis With Primary Renal Involvement
Tubulointerstitial nephritis, Hypogonadism, Weight loss ORPHA:85450
Primary Triglyceride Deposit Cardiomyovasculopathy
Hyperlipidemia, Diabetes mellitus, Elevated circulating creatine kinase concentration, Renal arte... ORPHA:565612
Oculopharyngodistal Myopathy 1
Weight loss, Hypercapnia, Dysphagia OMIM:164310
Malt Lymphoma
Abnormality of the thyroid gland, Posterior uveitis, Weight loss ORPHA:52417
Klatskin Tumor
Weight loss ORPHA:99978
Kikuchi-Fujimoto Disease
Skin rash, Anorexia, Pruritus, Myocarditis, Pustule, Weight loss, Malar rash ORPHA:50918
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Ketonuria, Hypospadias, Hypoglycemia, Small for gestational age, Hyperammonemia,... OMIM:220111
Anemia, Congenital Dyserythropoietic, Type Iv
Hypothyroidism, Short stature, Weight loss OMIM:613673
Stevens-Johnson Syndrome
Weight loss, Conjunctivitis, Pancreatitis, Dysphagia ORPHA:36426
Fabry Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Hyperlipidemia, Hematuria, Nephrotic syndrome, ... ORPHA:324
Igg4-Related Kidney Disease
Pericarditis, Inflammatory abnormality of the skin, Lymphadenitis, Urinary bladder inflammation, ... ORPHA:449395
Scorpion Envenomation
Ketonuria, Increased circulating NT-proBNP concentration, Increased circulating creatine kinase M... ORPHA:466677
Trichohepatoenteric Syndrome 1
Hypermethioninemia, Increased serum iron, Hypoalbuminemia, Abnormality of iron homeostasis OMIM:222470
Choreoacanthocytosis
Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Aggressive behavi... ORPHA:2388
Al Amyloidosis
Weight loss, Dysphagia ORPHA:85443
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia OMIM:620185
Multiple Myeloma
Osteopenia, Pathologic fracture, Weight loss ORPHA:29073
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Hyperlipidemia, Small for gestational age, Abnormal circulating fa... ORPHA:567983
Hermansky-Pudlak Syndrome
Abnormal dental enamel morphology, Anorexia, Weight loss ORPHA:79430
Tropical Endomyocardial Fibrosis
Cachexia ORPHA:75565
Tubulointerstitial Nephritis And Uveitis Syndrome
Nongranulomatous uveitis, Anterior uveitis, Skin rash, Anorexia, Intermediate uveitis, Weight los... ORPHA:91500
Primary Fanconi Renotubular Syndrome
Osteomalacia, Weight loss, Growth delay, Increased susceptibility to fractures, Hypophosphatemic ... ORPHA:3337
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Weight loss, Dysphagia OMIM:607459
African Trypanosomiasis
Pericarditis, Aggressive behavior, Keratitis, Myocarditis, Pruritus, Abnormality of the endocrine... ORPHA:3385
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Obesity, Horseshoe kidney, Ve... ORPHA:444077
Castleman Disease
Myelofibrosis, Weight loss ORPHA:160
Dominant Beta-Thalassemia
Abnormality of iron homeostasis ORPHA:231226
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Renal steatosis, Increased LDL cholesterol concentration, Renal artery stenosis, ... ORPHA:391665
Sarcoidosis
Hyperthyroidism, Maculopapular exanthema, Diabetes insipidus, Scarring, Erythema nodosum, Bone cy... ORPHA:797
Ileal Neuroendocrine Tumor
Small intestine carcinoid, Increased serum serotonin, Weight loss ORPHA:100078
Fanconi Anemia
Short stature, Weight loss, Growth delay, Reduced bone mineral density, Umbilical hernia, Hypogon... ORPHA:84
Chronic Graft Versus Host Disease
Fasciitis, Anorexia, Urinary bladder inflammation, Flexion contracture, Bronchiectasis, Weight lo... ORPHA:99921
Turner Syndrome Due To Structural X Chromosome Anomalies
Failure to thrive in infancy, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic ... ORPHA:99413
Mosaic Monosomy X
Failure to thrive in infancy, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic ... ORPHA:99228
Monosomy X
Failure to thrive in infancy, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic ... ORPHA:99226
Turner Syndrome
Failure to thrive in infancy, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic ... ORPHA:881
Von Hippel-Lindau Disease
Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paragangliom... ORPHA:892
Beta-Thalassemia Major
Abnormality of iron homeostasis ORPHA:231214
Pancreatoblastoma
Weight loss ORPHA:677
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Thyroiditis, Weight loss, Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Nod... ORPHA:79078
Renal Nutcracker Syndrome
Weight loss ORPHA:71273
Pmm2-Cdg
Multiple joint contractures, Hypogonadotropic hypogonadism, Proteinuria, Elevated circulating gro... ORPHA:79318
Syndromic Diarrhea
Abnormality of iron homeostasis ORPHA:84064
Goodpasture Syndrome
Cyanosis, Glomerulonephritis, Weight loss OMIM:233450
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Intrauterine growth retardation, Failure to thrive, Umbilical hernia OMIM:612938

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Fto

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Fto.

There are 11 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Hepatic FTO is dispensable for the regulation of metabolism but counteracts HCC development in vivo. Molecular metabolism (September 2020) Ftotm1c(EUCOMM)Wtsi PMC7560164
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Ftotm1a(EUCOMM)Wtsi PMC6671969
The Fat Mass and Obesity-Associated Protein (FTO) Regulates Locomotor Responses to Novelty via D2R Medium Spiny Neurons. Cell reports (June 2019) Ftotm1c(EUCOMM)Wtsi 31189104
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Ftotm1a(EUCOMM)Wtsi PMC6459510
The Role of m6A/m-RNA Methylation in Stress Response Regulation. Neuron (July 2018) Ftotm1a(EUCOMM)Wtsi Ftotm1c(EUCOMM)Wtsi PMC6069762
Fto-Deficiency Affects the Gene and MicroRNA Expression Involved in Brown Adipogenesis and Browning of White Adipose Tissue in Mice. International journal of molecular sciences (November 2016) Ftotm1a(EUCOMM)Wtsi PMC5133851
FTO modulates fibrogenic responses in obstructive nephropathy. Scientific reports (January 2016) Ftotm1a(EUCOMM)Wtsi Ftotm1b(EUCOMM)Wtsi PMC4698750
Loss of FTO in adipose tissue decreases Angptl4 translation and alters triglyceride metabolism. Science signaling (December 2015) Ftotm1c(EUCOMM)Wtsi Ftotm1a(EUCOMM)Wtsi Ftotm1b(EUCOMM)Wtsi 26671148
FTO modulates circadian rhythms and inhibits the CLOCK-BMAL1-induced transcription. Biochemical and biophysical research communications (July 2015) Ftotm1a(EUCOMM)Wtsi Ftotm1b(EUCOMM)Wtsi 26188089
Fat mass- and obesity-associated gene Fto affects the dietary response in mouse white adipose tissue. Scientific reports (March 2015) Ftotm1a(EUCOMM)Wtsi PMC4363842
The fat mass and obesity associated gene (Fto) regulates activity of the dopaminergic midbrain circuitry. Nature neuroscience (June 2013) Ftotm1c(EUCOMM)Wtsi Ftotm1a(EUCOMM)Wtsi Ftotm1d(EUCOMM)Wtsi 23817550

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Ftotm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Ftotm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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